Variant report

Variant	rs72677068
Chromosome Location	chr8:98956561-98956562
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:98949816..98952906-chr8:98954866..98958097,3	K562	blood:
2	chr8:98954024..98956725-chr8:98958749..98960500,2	K562	blood:
3	chr8:98954807..98957086-chr8:98962023..98964271,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000132561	Chromatin interaction

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs10090458	0.85[EUR][1000 genomes]
rs11994638	0.85[EUR][1000 genomes]
rs12674810	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12675146	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12675608	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs16892217	0.84[EUR][1000 genomes]
rs16896429	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs16896467	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs16896468	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs16896471	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs16896476	0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs16896503	0.85[EUR][1000 genomes]
rs16896514	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs16896518	0.85[EUR][1000 genomes]
rs16896521	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs16896531	0.85[EUR][1000 genomes]
rs1869607	0.89[EUR][1000 genomes]
rs1961270	0.85[EUR][1000 genomes]
rs2061053	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2290473	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2513844	0.95[EUR][1000 genomes]
rs34354078	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs35407519	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4734381	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4735514	0.86[EUR][1000 genomes]
rs4735516	0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4735519	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs60346298	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs60580631	0.85[EUR][1000 genomes]
rs6980810	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7018411	0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72677062	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72677085	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72677098	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs764568	0.82[EUR][1000 genomes]
rs930817	0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1032904	chr8:98756076-99476925	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
2	nsv539687	chr8:98756076-99476925	Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent/Poised TSS Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
3	nsv1028055	chr8:98780445-98977746	Weak transcription Genic enhancers Strong transcription Bivalent Enhancer Enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
4	nsv891214	chr8:98849303-98990399	Enhancers Active TSS ZNF genes & repeats Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
5	nsv891215	chr8:98910287-98980663	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:98938200-98969200	Weak transcription	Colonic Mucosa	Colon
2	chr8:98941000-98968000	Weak transcription	Esophagus	oesophagus
3	chr8:98944600-98957800	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr8:98945600-98970200	Weak transcription	Spleen	Spleen
5	chr8:98950400-98964600	Weak transcription	Pancreas	Pancrea
6	chr8:98952200-98962200	Weak transcription	Brain Cingulate Gyrus	brain
7	chr8:98954000-98956600	Weak transcription	Brain Angular Gyrus	brain
8	chr8:98954000-98956600	Strong transcription	Duodenum Mucosa	Duodenum
9	chr8:98954000-98957200	Genic enhancers	Fetal Muscle Leg	muscle
10	chr8:98954200-98957800	Genic enhancers	Fetal Stomach	stomach
11	chr8:98954200-98957800	Enhancers	NHDF-Ad	bronchial
12	chr8:98954200-98958000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
13	chr8:98954600-98957200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
14	chr8:98954800-98957400	Enhancers	Fetal Lung	lung
15	chr8:98955200-98957000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
16	chr8:98955400-98956600	Genic enhancers	Rectal Mucosa Donor 31	rectum
17	chr8:98955400-98957200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr8:98955400-98957800	Enhancers	Left Ventricle	heart
19	chr8:98955600-98957000	Enhancers	HUES6 Cell Line	embryonic stem cell
20	chr8:98955600-98957200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr8:98955600-98957200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr8:98955600-98957400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr8:98955600-98957600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr8:98955600-98959000	Enhancers	Ovary	ovary
25	chr8:98955600-98962200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr8:98955600-98962400	Weak transcription	Fetal Kidney	kidney
27	chr8:98955800-98956600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr8:98955800-98956600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr8:98955800-98956600	Enhancers	Stomach Smooth Muscle	stomach
30	chr8:98955800-98956800	Enhancers	H1 Cell Line	embryonic stem cell
31	chr8:98955800-98956800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
32	chr8:98955800-98957000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr8:98955800-98957000	Enhancers	Rectal Smooth Muscle	rectum
34	chr8:98955800-98957200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr8:98955800-98957200	Genic enhancers	Fetal Muscle Trunk	muscle
36	chr8:98955800-98957200	Enhancers	Right Atrium	heart
37	chr8:98955800-98957200	Enhancers	Osteobl	bone
38	chr8:98956000-98956600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr8:98956000-98956800	Enhancers	HSMM	muscle
40	chr8:98956000-98957000	Enhancers	HUES64 Cell Line	embryonic stem cell
41	chr8:98956000-98957000	Enhancers	iPS-15b Cell Line	embryonic stem cell
42	chr8:98956000-98957000	Enhancers	iPS-20b Cell Line	embryonic stem cell
43	chr8:98956000-98957000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr8:98956000-98957000	Enhancers	Muscle Satellite Cultured Cells	--
45	chr8:98956000-98957000	Enhancers	NH-A	brain
46	chr8:98956000-98957200	Enhancers	iPS-18 Cell Line	embryonic stem cell
47	chr8:98956000-98957400	Enhancers	ES-I3 Cell Line	embryonic stem cell
48	chr8:98956200-98956600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr8:98956200-98956600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
50	chr8:98956200-98956600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin

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